Amyotrophic lateral sclerosis: An emerging era of collaboratie gene discovery

Katrina Gwinn; Roderick A. Corriveau; Hiroshi Mitsumoto; Kate Bednarz; Robert H. Brown; Merit Cudkowicz; Paul H. Gordon; John Hardy; Edward J. Kasarskis; Petra Kaufmann; Robert Miller; Eric Sorenson; Rup Tandan; Bryan J. Traynor; Josefina Nash; Alex Sherman; Matthew D. Mailman; James Ostell; Lucie Bruijn; Valerie Cwik; Stephen S. Rich; Andrew Singleton; Larry Refolo; Jaime Andrews; Ran Zhang; Robin Conwit; Margaret A. Keller; Catherine Lomen-Hoerth; Zachary Simmons; Daniel S. Newman; Richard J. Barohn; Brian Crum; J. Clarke Stevens; Ericka P. Simpson; Kevin B. Boylan; Leo McCluskey; Richard S. Bedlack; E. Peter Bosch; Paul E. Barkhaus; Allitia Dibernardo; James B. Caress; David Lacomis; Alan Pestronk; Jeremy M. Shefner; Nicholas J. Maragakis; Daragh Heitzman; Kimberly L. Goslin; Carlayne E. Jackson; Jonathan D. Glass; Tahseen Mozaffar; Tulio E. Bertorini; David A. Chad; Jaya R. Trivedi; Kourosh Rezania; Terry D. Heiman-Patterson; Laurie Gutmann; Jeffery Rosenfeld; Benjamin R. Brooks; Ghazala Hayat; John E. Chapin; Stacy A. Rudnicki; Yadollah Harati; Sandeep S. Rana; Ashok Verma; James A. Russell; Erik P. Pioro; Charles A. Thornton; Laura Sams; John Kelly; Elham Bayat; Praful M. Kelkar; Ezzatollah T. Shivapour; Stephen N. Scelsa; David Walk; Amanda C. Peltier; George Sachs; Jerry M. Belsh; Michael C. Graves; Nimish J. Thakore; Harris T. Brent; Charles Cho; James P. Wymer; Jau Shin Lou; Michael D. Weiss; Gregory S. Carter; Carmel Armon; Thomas R. Vidic; Mark B. Bromberg; Dale J. Lange

doi:10.1371/journal.pone.0001254

Amyotrophic lateral sclerosis: An emerging era of collaboratie gene discovery

Katrina Gwinn^*, Roderick A. Corriveau, Hiroshi Mitsumoto, Kate Bednarz, Robert H. Brown, Merit Cudkowicz, Paul H. Gordon, John Hardy, Edward J. Kasarskis, Petra Kaufmann, Robert Miller, Eric Sorenson, Rup Tandan, Bryan J. Traynor, Josefina Nash, Alex Sherman, Matthew D. Mailman, James Ostell, Lucie Bruijn, Valerie CwikStephen S. Rich, Andrew Singleton, Larry Refolo, Jaime Andrews, Ran Zhang, Robin Conwit, Margaret A. Keller, Catherine Lomen-Hoerth, Zachary Simmons, Daniel S. Newman, Richard J. Barohn, Brian Crum, J. Clarke Stevens, Ericka P. Simpson, Kevin B. Boylan, Leo McCluskey, Richard S. Bedlack, E. Peter Bosch, Paul E. Barkhaus, Allitia Dibernardo, James B. Caress, David Lacomis, Alan Pestronk, Jeremy M. Shefner, Nicholas J. Maragakis, Daragh Heitzman, Kimberly L. Goslin, Carlayne E. Jackson, Jonathan D. Glass, Tahseen Mozaffar, Tulio E. Bertorini, David A. Chad, Jaya R. Trivedi, Kourosh Rezania, Terry D. Heiman-Patterson, Laurie Gutmann, Jeffery Rosenfeld, Benjamin R. Brooks, Ghazala Hayat, John E. Chapin, Stacy A. Rudnicki, Yadollah Harati, Sandeep S. Rana, Ashok Verma, James A. Russell, Erik P. Pioro, Charles A. Thornton, Laura Sams, John Kelly, Elham Bayat, Praful M. Kelkar, Ezzatollah T. Shivapour, Stephen N. Scelsa, David Walk, Amanda C. Peltier, George Sachs, Jerry M. Belsh, Michael C. Graves, Nimish J. Thakore, Harris T. Brent, Charles Cho, James P. Wymer, Jau Shin Lou, Michael D. Weiss, Gregory S. Carter, Carmel Armon, Thomas R. Vidic, Mark B. Bromberg, Dale J. Lange

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

16 Scopus citations

Abstract

Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease (MND). It is currently incurable and treatment is largely limited to supportive care. Family history is associated with an increased risk of ALS, and many Mendelian causes have been discovered. However, most forms of the disease are not obviously familial. Recent advances in human genetics have enabled genome-wide analyses of single nucleotide polymorphisms (SNPs) that make it possible to study complex genetic contributions to human disease. Genome-wide SNP analyses require a large sample size and thus depend upon collaborative efforts to collect and manage the biological samples and corresponding data. Public availability of biological samples (such as DNA), phenotypic and genotypic data further enhances research endeavors. Here we discuss a large collaboration among academic investigators, government, and non-government organizations which has created a public repository of human DNA, immortalized cell lines, and clinical data to further gene discovery in ALS. This resource currently maintains samples and associated phenotypic data from 2332 MND subjects and 4692 controls. This resource should facilitate genetic discoveries which we anticipate will ultimately provide a better understanding of the biological mechanisms of neurodegeneration in ALS.

Original language	English
Article number	e1254
Journal	PLoS ONE
Volume	2
Issue number	12
DOIs	https://doi.org/10.1371/journal.pone.0001254
State	Published - 5 Dec 2007
Externally published	Yes

Funding

Funders	Funder number
National Institute of Neurological Disorders and Stroke	R01NS045294
National Institute of Neurological Disorders and Stroke

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10.1371/journal.pone.0001254

Cite this

Gwinn, K., Corriveau, R. A., Mitsumoto, H., Bednarz, K., Brown, R. H., Cudkowicz, M., Gordon, P. H., Hardy, J., Kasarskis, E. J., Kaufmann, P., Miller, R., Sorenson, E., Tandan, R., Traynor, B. J., Nash, J., Sherman, A., Mailman, M. D., Ostell, J., Bruijn, L., ... Lange, D. J. (2007). Amyotrophic lateral sclerosis: An emerging era of collaboratie gene discovery. PLoS ONE, 2(12), Article e1254. https://doi.org/10.1371/journal.pone.0001254

@article{02cc95a876cd4fb3b5a2a69c558873e1,

title = "Amyotrophic lateral sclerosis: An emerging era of collaboratie gene discovery",

abstract = "Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease (MND). It is currently incurable and treatment is largely limited to supportive care. Family history is associated with an increased risk of ALS, and many Mendelian causes have been discovered. However, most forms of the disease are not obviously familial. Recent advances in human genetics have enabled genome-wide analyses of single nucleotide polymorphisms (SNPs) that make it possible to study complex genetic contributions to human disease. Genome-wide SNP analyses require a large sample size and thus depend upon collaborative efforts to collect and manage the biological samples and corresponding data. Public availability of biological samples (such as DNA), phenotypic and genotypic data further enhances research endeavors. Here we discuss a large collaboration among academic investigators, government, and non-government organizations which has created a public repository of human DNA, immortalized cell lines, and clinical data to further gene discovery in ALS. This resource currently maintains samples and associated phenotypic data from 2332 MND subjects and 4692 controls. This resource should facilitate genetic discoveries which we anticipate will ultimately provide a better understanding of the biological mechanisms of neurodegeneration in ALS.",

author = "Katrina Gwinn and Corriveau, {Roderick A.} and Hiroshi Mitsumoto and Kate Bednarz and Brown, {Robert H.} and Merit Cudkowicz and Gordon, {Paul H.} and John Hardy and Kasarskis, {Edward J.} and Petra Kaufmann and Robert Miller and Eric Sorenson and Rup Tandan and Traynor, {Bryan J.} and Josefina Nash and Alex Sherman and Mailman, {Matthew D.} and James Ostell and Lucie Bruijn and Valerie Cwik and Rich, {Stephen S.} and Andrew Singleton and Larry Refolo and Jaime Andrews and Ran Zhang and Robin Conwit and Keller, {Margaret A.} and Catherine Lomen-Hoerth and Zachary Simmons and Newman, {Daniel S.} and Barohn, {Richard J.} and Brian Crum and Stevens, {J. Clarke} and Simpson, {Ericka P.} and Boylan, {Kevin B.} and Leo McCluskey and Bedlack, {Richard S.} and Bosch, {E. Peter} and Barkhaus, {Paul E.} and Allitia Dibernardo and Caress, {James B.} and David Lacomis and Alan Pestronk and Shefner, {Jeremy M.} and Maragakis, {Nicholas J.} and Daragh Heitzman and Goslin, {Kimberly L.} and Jackson, {Carlayne E.} and Glass, {Jonathan D.} and Tahseen Mozaffar and Bertorini, {Tulio E.} and Chad, {David A.} and Trivedi, {Jaya R.} and Kourosh Rezania and Heiman-Patterson, {Terry D.} and Laurie Gutmann and Jeffery Rosenfeld and Brooks, {Benjamin R.} and Ghazala Hayat and Chapin, {John E.} and Rudnicki, {Stacy A.} and Yadollah Harati and Rana, {Sandeep S.} and Ashok Verma and Russell, {James A.} and Pioro, {Erik P.} and Thornton, {Charles A.} and Laura Sams and John Kelly and Elham Bayat and Kelkar, {Praful M.} and Shivapour, {Ezzatollah T.} and Scelsa, {Stephen N.} and David Walk and Peltier, {Amanda C.} and George Sachs and Belsh, {Jerry M.} and Graves, {Michael C.} and Thakore, {Nimish J.} and Brent, {Harris T.} and Charles Cho and Wymer, {James P.} and Lou, {Jau Shin} and Weiss, {Michael D.} and Carter, {Gregory S.} and Carmel Armon and Vidic, {Thomas R.} and Bromberg, {Mark B.} and Lange, {Dale J.}",

year = "2007",

month = dec,

day = "5",

doi = "10.1371/journal.pone.0001254",

language = "אנגלית",

volume = "2",

journal = "PLoS ONE",

issn = "1932-6203",

publisher = "Public Library of Science",

number = "12",

}

Gwinn, K, Corriveau, RA, Mitsumoto, H, Bednarz, K, Brown, RH, Cudkowicz, M, Gordon, PH, Hardy, J, Kasarskis, EJ, Kaufmann, P, Miller, R, Sorenson, E, Tandan, R, Traynor, BJ, Nash, J, Sherman, A, Mailman, MD, Ostell, J, Bruijn, L, Cwik, V, Rich, SS, Singleton, A, Refolo, L, Andrews, J, Zhang, R, Conwit, R, Keller, MA, Lomen-Hoerth, C, Simmons, Z, Newman, DS, Barohn, RJ, Crum, B, Stevens, JC, Simpson, EP, Boylan, KB, McCluskey, L, Bedlack, RS, Bosch, EP, Barkhaus, PE, Dibernardo, A, Caress, JB, Lacomis, D, Pestronk, A, Shefner, JM, Maragakis, NJ, Heitzman, D, Goslin, KL, Jackson, CE, Glass, JD, Mozaffar, T, Bertorini, TE, Chad, DA, Trivedi, JR, Rezania, K, Heiman-Patterson, TD, Gutmann, L, Rosenfeld, J, Brooks, BR, Hayat, G, Chapin, JE, Rudnicki, SA, Harati, Y, Rana, SS, Verma, A, Russell, JA, Pioro, EP, Thornton, CA, Sams, L, Kelly, J, Bayat, E, Kelkar, PM, Shivapour, ET, Scelsa, SN, Walk, D, Peltier, AC, Sachs, G, Belsh, JM, Graves, MC, Thakore, NJ, Brent, HT, Cho, C, Wymer, JP, Lou, JS, Weiss, MD, Carter, GS, Armon, C, Vidic, TR, Bromberg, MB & Lange, DJ 2007, 'Amyotrophic lateral sclerosis: An emerging era of collaboratie gene discovery', PLoS ONE, vol. 2, no. 12, e1254. https://doi.org/10.1371/journal.pone.0001254

TY - JOUR

T1 - Amyotrophic lateral sclerosis

T2 - An emerging era of collaboratie gene discovery

AU - Gwinn, Katrina

AU - Corriveau, Roderick A.

AU - Mitsumoto, Hiroshi

AU - Bednarz, Kate

AU - Brown, Robert H.

AU - Cudkowicz, Merit

AU - Gordon, Paul H.

AU - Hardy, John

AU - Kasarskis, Edward J.

AU - Kaufmann, Petra

AU - Miller, Robert

AU - Sorenson, Eric

AU - Tandan, Rup

AU - Traynor, Bryan J.

AU - Nash, Josefina

AU - Sherman, Alex

AU - Mailman, Matthew D.

AU - Ostell, James

AU - Bruijn, Lucie

AU - Cwik, Valerie

AU - Rich, Stephen S.

AU - Singleton, Andrew

AU - Refolo, Larry

AU - Andrews, Jaime

AU - Zhang, Ran

AU - Conwit, Robin

AU - Keller, Margaret A.

AU - Lomen-Hoerth, Catherine

AU - Simmons, Zachary

AU - Newman, Daniel S.

AU - Barohn, Richard J.

AU - Crum, Brian

AU - Stevens, J. Clarke

AU - Simpson, Ericka P.

AU - Boylan, Kevin B.

AU - McCluskey, Leo

AU - Bedlack, Richard S.

AU - Bosch, E. Peter

AU - Barkhaus, Paul E.

AU - Dibernardo, Allitia

AU - Caress, James B.

AU - Lacomis, David

AU - Pestronk, Alan

AU - Shefner, Jeremy M.

AU - Maragakis, Nicholas J.

AU - Heitzman, Daragh

AU - Goslin, Kimberly L.

AU - Jackson, Carlayne E.

AU - Glass, Jonathan D.

AU - Mozaffar, Tahseen

AU - Bertorini, Tulio E.

AU - Chad, David A.

AU - Trivedi, Jaya R.

AU - Rezania, Kourosh

AU - Heiman-Patterson, Terry D.

AU - Gutmann, Laurie

AU - Rosenfeld, Jeffery

AU - Brooks, Benjamin R.

AU - Hayat, Ghazala

AU - Chapin, John E.

AU - Rudnicki, Stacy A.

AU - Harati, Yadollah

AU - Rana, Sandeep S.

AU - Verma, Ashok

AU - Russell, James A.

AU - Pioro, Erik P.

AU - Thornton, Charles A.

AU - Sams, Laura

AU - Kelly, John

AU - Bayat, Elham

AU - Kelkar, Praful M.

AU - Shivapour, Ezzatollah T.

AU - Scelsa, Stephen N.

AU - Walk, David

AU - Peltier, Amanda C.

AU - Sachs, George

AU - Belsh, Jerry M.

AU - Graves, Michael C.

AU - Thakore, Nimish J.

AU - Brent, Harris T.

AU - Cho, Charles

AU - Wymer, James P.

AU - Lou, Jau Shin

AU - Weiss, Michael D.

AU - Carter, Gregory S.

AU - Armon, Carmel

AU - Vidic, Thomas R.

AU - Bromberg, Mark B.

AU - Lange, Dale J.

PY - 2007/12/5

Y1 - 2007/12/5

N2 - Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease (MND). It is currently incurable and treatment is largely limited to supportive care. Family history is associated with an increased risk of ALS, and many Mendelian causes have been discovered. However, most forms of the disease are not obviously familial. Recent advances in human genetics have enabled genome-wide analyses of single nucleotide polymorphisms (SNPs) that make it possible to study complex genetic contributions to human disease. Genome-wide SNP analyses require a large sample size and thus depend upon collaborative efforts to collect and manage the biological samples and corresponding data. Public availability of biological samples (such as DNA), phenotypic and genotypic data further enhances research endeavors. Here we discuss a large collaboration among academic investigators, government, and non-government organizations which has created a public repository of human DNA, immortalized cell lines, and clinical data to further gene discovery in ALS. This resource currently maintains samples and associated phenotypic data from 2332 MND subjects and 4692 controls. This resource should facilitate genetic discoveries which we anticipate will ultimately provide a better understanding of the biological mechanisms of neurodegeneration in ALS.

AB - Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease (MND). It is currently incurable and treatment is largely limited to supportive care. Family history is associated with an increased risk of ALS, and many Mendelian causes have been discovered. However, most forms of the disease are not obviously familial. Recent advances in human genetics have enabled genome-wide analyses of single nucleotide polymorphisms (SNPs) that make it possible to study complex genetic contributions to human disease. Genome-wide SNP analyses require a large sample size and thus depend upon collaborative efforts to collect and manage the biological samples and corresponding data. Public availability of biological samples (such as DNA), phenotypic and genotypic data further enhances research endeavors. Here we discuss a large collaboration among academic investigators, government, and non-government organizations which has created a public repository of human DNA, immortalized cell lines, and clinical data to further gene discovery in ALS. This resource currently maintains samples and associated phenotypic data from 2332 MND subjects and 4692 controls. This resource should facilitate genetic discoveries which we anticipate will ultimately provide a better understanding of the biological mechanisms of neurodegeneration in ALS.

UR - http://www.scopus.com/inward/record.url?scp=41649087062&partnerID=8YFLogxK

U2 - 10.1371/journal.pone.0001254

DO - 10.1371/journal.pone.0001254

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C2 - 18060051

AN - SCOPUS:41649087062

SN - 1932-6203

VL - 2

JO - PLoS ONE

JF - PLoS ONE

IS - 12

M1 - e1254

ER -

Amyotrophic lateral sclerosis: An emerging era of collaboratie gene discovery

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